SLC9A6, solute carrier family 9 member A6, 10479

N. diseases: 210; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730882188
rs730882188 		1.000 0.280 X 135998486 frameshift variant AT/- del
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs796053290
rs796053290 		0.925 0.280 X 135998095 splice region variant TTTTA/- delins
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886037619
rs886037619 		1.000 0.280 X 136002171 inframe deletion AAAGTG/- delins
CUI: C2678194
Disease: Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Christianson Type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs796053290
rs796053290 		0.925 0.280 X 135998095 splice region variant TTTTA/- delins
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1064793575
rs1064793575 		0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0008489
Disease: Chorea
Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1569525894
rs1569525894 		0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0